ClinVar Miner

Submissions for variant NM_004766.3(COPB2):c.1906dup (p.Thr636fs)

dbSNP: rs2107797719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001787403 SCV002030294 uncertain significance COPB2-related disorder 2021-11-30 criteria provided, single submitter clinical testing This individual has been published in PMID: 34450031.
OMIM RCV002246507 SCV002520541 pathogenic Osteoporosis, childhood- or juvenile-onset, with developmental delay 2022-05-24 no assertion criteria provided literature only

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